Mutagenetix > Incidental Mutation

Incidental Mutation 'R1595:Ptchd3'

175747

Institutional Source

Beutler Lab

Gene Symbol

Ptchd3

Ensembl Gene

ENSMUSG00000039198

Gene Name

patched domain containing 3

Synonyms

4930451E13Rik, 4933440L20Rik

MMRRC Submission

039632-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1595 (G1)

Quality Score

123

Status

Validated

Chromosome

Chromosomal Location

121721073-121734249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121721420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 98 (F98I)

Ref Sequence

ENSEMBL: ENSMUSP00000035709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036690]

AlphaFold

Q0EEE2

Predicted Effect

probably damaging
Transcript: ENSMUST00000036690
AA Change: F98I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035709
Gene: ENSMUSG00000039198
AA Change: F98I

Domain	Start	End	E-Value	Type
Pfam:Patched	121	906	1.2e-177	PFAM
Pfam:Sterol-sensing	363	508	3.4e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126556

Meta Mutation Damage Score

0.1531

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.1%

Validation Efficiency

97% (77/79)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	C	T	1: 75,153,944 (GRCm39)		probably null	Het
Abcc10	G	T	17: 46,633,164 (GRCm39)	P556H	probably damaging	Het
Abcc9	A	T	6: 142,578,821 (GRCm39)	D914E	probably benign	Het
Adgrf4	A	G	17: 42,978,764 (GRCm39)	V193A	probably benign	Het
Adm	A	T	7: 110,228,298 (GRCm39)	T160S	probably damaging	Het
Ammecr1l	T	C	18: 31,905,173 (GRCm39)		probably null	Het
Angpt2	T	C	8: 18,748,129 (GRCm39)	D377G	probably damaging	Het
Ankfn1	A	G	11: 89,313,593 (GRCm39)		probably null	Het
Arhgap30	T	G	1: 171,235,909 (GRCm39)	M761R	probably benign	Het
Asb4	T	G	6: 5,390,692 (GRCm39)	N28K	probably damaging	Het
Cd177	A	T	7: 24,444,389 (GRCm39)	D696E	probably benign	Het
Cd200	G	A	16: 45,215,214 (GRCm39)	T123I	probably benign	Het
Cfap70	A	G	14: 20,497,604 (GRCm39)	V50A	probably benign	Het
Chaf1b	T	C	16: 93,701,987 (GRCm39)		probably null	Het
Chgb	A	C	2: 132,635,657 (GRCm39)	D533A	probably benign	Het
Col12a1	A	G	9: 79,509,536 (GRCm39)	Y3041H	probably damaging	Het
Crot	T	C	5: 9,024,186 (GRCm39)	N337D	probably benign	Het
Csad	G	A	15: 102,086,217 (GRCm39)	A51V	probably damaging	Het
Cstdc7	T	C	18: 42,306,454 (GRCm39)	M7T	probably benign	Het
Cyp2b9	A	G	7: 25,900,332 (GRCm39)	Y380C	possibly damaging	Het
Dpysl2	G	T	14: 67,052,952 (GRCm39)	A299E	probably damaging	Het
Efcc1	A	G	6: 87,708,440 (GRCm39)	E189G	probably damaging	Het
Egfr	T	C	11: 16,856,847 (GRCm39)	I940T	probably damaging	Het
Etnk2	T	G	1: 133,300,917 (GRCm39)	L228R	possibly damaging	Het
Fitm2	A	G	2: 163,311,610 (GRCm39)	I201T	probably benign	Het
Foxo1	A	T	3: 52,253,375 (GRCm39)	M513L	probably benign	Het
Galnt16	A	T	12: 80,637,410 (GRCm39)	K379I	probably damaging	Het
Gm57858	C	T	3: 36,073,146 (GRCm39)	A379T	probably damaging	Het
Gtf2a1	T	A	12: 91,556,323 (GRCm39)	N6Y	probably damaging	Het
Kcnc1	G	A	7: 46,077,010 (GRCm39)	V271M	probably benign	Het
Klhdc8b	T	A	9: 108,328,362 (GRCm39)	D30V	probably damaging	Het
Lrrc7	G	A	3: 157,882,914 (GRCm39)	Q448*	probably null	Het
Med29	T	C	7: 28,091,928 (GRCm39)	D54G	probably damaging	Het
Mfn2	T	C	4: 147,979,153 (GRCm39)	T60A	probably benign	Het
Mroh1	T	C	15: 76,317,730 (GRCm39)		probably benign	Het
Mxd1	A	T	6: 86,628,453 (GRCm39)	V149E	possibly damaging	Het
Naip6	A	T	13: 100,435,602 (GRCm39)	Y974N	probably damaging	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Nhsl1	G	T	10: 18,402,096 (GRCm39)	K1107N	probably damaging	Het
Nlrc3	T	C	16: 3,783,166 (GRCm39)	E81G	probably benign	Het
Or10al3	G	T	17: 38,012,004 (GRCm39)	A148S	probably benign	Het
Or9e1	G	T	11: 58,732,478 (GRCm39)	M179I	probably benign	Het
Osbpl5	C	T	7: 143,256,955 (GRCm39)	V392M	possibly damaging	Het
Pcdhb22	T	A	18: 37,653,506 (GRCm39)	V401E	probably damaging	Het
Pcm1	T	A	8: 41,762,672 (GRCm39)	H1444Q	probably damaging	Het
Pdlim2	A	G	14: 70,402,193 (GRCm39)	Y308H	probably damaging	Het
Phf14	T	G	6: 11,988,752 (GRCm39)	L664R	possibly damaging	Het
Phkb	T	C	8: 86,753,182 (GRCm39)		probably benign	Het
Ptprt	C	T	2: 161,652,469 (GRCm39)		probably null	Het
Rbp3	A	T	14: 33,678,155 (GRCm39)	H701L	possibly damaging	Het
Rgl1	T	C	1: 152,550,774 (GRCm39)		probably benign	Het
Satb1	A	T	17: 52,089,729 (GRCm39)	S373T	possibly damaging	Het
Scn3a	T	A	2: 65,329,323 (GRCm39)	Y769F	probably damaging	Het
Senp7	A	G	16: 56,005,131 (GRCm39)	I922V	probably damaging	Het
Serpina3g	A	G	12: 104,205,531 (GRCm39)	E90G	probably benign	Het
Sh3rf2	C	T	18: 42,244,353 (GRCm39)	T273I	probably damaging	Het
Slc15a3	A	G	19: 10,831,675 (GRCm39)	T350A	probably benign	Het
Socs5	T	C	17: 87,441,623 (GRCm39)	C188R	probably damaging	Het
Tacr1	A	G	6: 82,380,723 (GRCm39)	T45A	probably benign	Het
Th	A	G	7: 142,450,745 (GRCm39)	V117A	probably benign	Het
Thpo	C	A	16: 20,547,206 (GRCm39)	D81Y	probably damaging	Het
Tmem229b-ps	A	G	10: 53,351,385 (GRCm39)		noncoding transcript	Het
Trpc4	A	G	3: 54,223,236 (GRCm39)	E724G	probably benign	Het
Ttn	T	C	2: 76,576,977 (GRCm39)	T24639A	probably damaging	Het
Ulk4	A	G	9: 120,873,904 (GRCm39)	S1176P	probably damaging	Het
Urgcp	T	C	11: 5,667,447 (GRCm39)	D297G	probably damaging	Het
Vmn1r168	G	A	7: 23,240,620 (GRCm39)	G159D	probably damaging	Het
Vmn1r67	A	T	7: 10,181,597 (GRCm39)	N226I	probably benign	Het
Vmn2r27	T	C	6: 124,208,574 (GRCm39)	E57G	probably benign	Het
Zdhhc14	G	T	17: 5,543,831 (GRCm39)	R37L	probably benign	Het
Zfp512b	G	A	2: 181,230,229 (GRCm39)	T499I	probably damaging	Het
Zmym2	A	T	14: 57,158,187 (GRCm39)	K575N	probably benign	Het

Other mutations in Ptchd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Ptchd3	APN	11	121,721,972 (GRCm39)	missense	probably damaging	1.00
IGL01459:Ptchd3	APN	11	121,721,246 (GRCm39)	missense	probably benign	0.00
IGL02815:Ptchd3	APN	11	121,732,430 (GRCm39)	missense	probably benign	0.03
PIT4418001:Ptchd3	UTSW	11	121,732,566 (GRCm39)	nonsense	probably null
PIT4791001:Ptchd3	UTSW	11	121,722,875 (GRCm39)	missense	probably damaging	0.98
R0018:Ptchd3	UTSW	11	121,733,170 (GRCm39)	missense	probably benign
R0068:Ptchd3	UTSW	11	121,733,798 (GRCm39)	missense	probably damaging	1.00
R0068:Ptchd3	UTSW	11	121,733,798 (GRCm39)	missense	probably damaging	1.00
R0316:Ptchd3	UTSW	11	121,732,916 (GRCm39)	missense	possibly damaging	0.91
R0331:Ptchd3	UTSW	11	121,733,017 (GRCm39)	missense	probably benign	0.00
R0715:Ptchd3	UTSW	11	121,721,984 (GRCm39)	missense	possibly damaging	0.90
R1200:Ptchd3	UTSW	11	121,722,087 (GRCm39)	critical splice donor site	probably null
R1763:Ptchd3	UTSW	11	121,733,368 (GRCm39)	missense	probably benign	0.00
R1792:Ptchd3	UTSW	11	121,732,377 (GRCm39)	nonsense	probably null
R2098:Ptchd3	UTSW	11	121,733,305 (GRCm39)	missense	probably damaging	1.00
R4120:Ptchd3	UTSW	11	121,721,572 (GRCm39)	missense	probably damaging	1.00
R4533:Ptchd3	UTSW	11	121,727,257 (GRCm39)	missense	probably damaging	1.00
R4702:Ptchd3	UTSW	11	121,727,235 (GRCm39)	missense	probably damaging	1.00
R4761:Ptchd3	UTSW	11	121,727,224 (GRCm39)	missense	possibly damaging	0.95
R4868:Ptchd3	UTSW	11	121,721,883 (GRCm39)	missense	possibly damaging	0.85
R4948:Ptchd3	UTSW	11	121,733,342 (GRCm39)	missense	probably damaging	1.00
R5092:Ptchd3	UTSW	11	121,721,972 (GRCm39)	missense	probably damaging	1.00
R5954:Ptchd3	UTSW	11	121,727,413 (GRCm39)	intron	probably benign
R6199:Ptchd3	UTSW	11	121,721,908 (GRCm39)	missense	probably benign	0.17
R6431:Ptchd3	UTSW	11	121,727,229 (GRCm39)	missense	probably benign	0.06
R6484:Ptchd3	UTSW	11	121,733,764 (GRCm39)	missense	possibly damaging	0.91
R7936:Ptchd3	UTSW	11	121,721,939 (GRCm39)	nonsense	probably null
R8120:Ptchd3	UTSW	11	121,733,034 (GRCm39)	missense	probably benign	0.00
R8311:Ptchd3	UTSW	11	121,727,299 (GRCm39)	missense	possibly damaging	0.88
R9004:Ptchd3	UTSW	11	121,732,687 (GRCm39)	missense	possibly damaging	0.88
R9026:Ptchd3	UTSW	11	121,721,682 (GRCm39)	missense	possibly damaging	0.95
R9091:Ptchd3	UTSW	11	121,733,180 (GRCm39)	missense	probably benign	0.00
R9199:Ptchd3	UTSW	11	121,721,741 (GRCm39)	missense	probably benign	0.43
R9261:Ptchd3	UTSW	11	121,722,956 (GRCm39)	missense	probably damaging	0.96
R9270:Ptchd3	UTSW	11	121,733,180 (GRCm39)	missense	probably benign	0.00
R9412:Ptchd3	UTSW	11	121,732,779 (GRCm39)	missense	possibly damaging	0.54
R9419:Ptchd3	UTSW	11	121,732,356 (GRCm39)	missense	possibly damaging	0.94
R9435:Ptchd3	UTSW	11	121,721,646 (GRCm39)	missense	probably benign	0.00
R9491:Ptchd3	UTSW	11	121,733,813 (GRCm39)	missense	probably damaging	1.00
Z1176:Ptchd3	UTSW	11	121,727,302 (GRCm39)	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- GTGGGCAACATGATCTCCTCCAAG -3'
(R):5'- TGCAAAGTTGGTCTCGGAGCTG -3'

Sequencing Primer
(F):5'- ATGATCTCCTCCAAGGTGGC -3'
(R):5'- TGGTCCTGGAGGCAGAG -3'

Posted On

2014-04-24